Linked Data
ClinVar Variation Id:
208245
dbSNP Id:
rs797044847
gnomAD v2:
16-11643594-C-T
PubMed:
PMID:20301384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11549738C>T , CM000678.2:g.11549738C>T | GRCh38 |
| NC_000016.9:g.11643594C>T , CM000678.1:g.11643594C>T | GRCh37 |
| NC_000016.8:g.11551095C>T | NCBI36 |
| NG_009008.1:g.42213G>A , LRG_253:g.42213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622633.5:c.385G>A MANE Select | ENSP00000483114.1:p.Ala129Thr | |
| ENST00000339430.9:c.385G>A | ENSP00000340118.5:p.Ala129Thr | |
| ENST00000381810.7:c.386G>A | ENSP00000371231.3:p.Ser129Asn | |
| ENST00000413364.6:c.*24G>A | ENSP00000397958.2:n.*24G>A | |
| ENST00000570798.5:c.385G>A | ENSP00000458871.1:p.Ala129Thr | |
| ENST00000570904.5:c.385G>A | ENSP00000459138.1:p.Ala129Thr | |
| ENST00000571459.5:c.228G>A | ENSP00000459603.1:p.Ter76= | |
| ENST00000571627.5:c.385G>A | ENSP00000460743.1:p.Ala129Thr | |
| ENST00000571688.5:c.385G>A | ENSP00000459533.1:p.Ala129Thr | |
| ENST00000572255.5:c.106G>A | ENSP00000458836.1:p.Ala36Thr | |
| ENST00000573332.5:c.*198G>A | ENSP00000460873.1:n.*198G>A | |
| ENST00000574763.5:c.385G>A | ENSP00000461813.1:p.Ala129Thr | |
| ENST00000575426.1:c.204G>A | ||
| ENST00000576036.5:c.385G>A | ENSP00000461667.1:p.Ala129Thr | |
| ENST00000622633.4:c.385G>A | ENSP00000483114.1:p.Ala129Thr | |
| NM_001136472.1:c.385G>A | NP_001129944.1:p.Ala129Thr | |
| NM_001136473.1:c.*24G>A , LRG_253t1:c.*24G>A | NP_001129945.1:n.*24G>A | |
| NM_004862.3:c.385G>A | NP_004853.2:p.Ala129Thr | |
| NR_024320.1:n.519G>A | ||
| XM_006720982.2:c.385G>A | XP_006721045.1:p.Ala129Thr | |
| XM_006720983.2:c.385G>A | XP_006721046.1:p.Ala129Thr | |
| XM_006720984.2:c.385G>A | XP_006721047.1:p.Ala129Thr | |
| XM_006720985.2:c.385G>A | XP_006721048.1:p.Ala129Thr | |
| XM_011522754.1:c.475G>A | XP_011521056.1:p.Ala159Thr | |
| XM_006720982.3:c.385G>A | XP_006721045.1:p.Ala129Thr | |
| XM_006720983.4:c.385G>A | XP_006721046.1:p.Ala129Thr | |
| XM_006720984.4:c.385G>A | XP_006721047.1:p.Ala129Thr | |
| XM_006720985.3:c.385G>A | XP_006721048.1:p.Ala129Thr | |
| XM_011522754.3:c.475G>A | XP_011521056.1:p.Ala159Thr | |
| XM_017023896.1:c.385G>A | XP_016879385.1:p.Ala129Thr | |
| NM_001136472.2:c.385G>A MANE Select | NP_001129944.1:p.Ala129Thr | |
| NM_004862.4:c.385G>A | NP_004853.2:p.Ala129Thr | |
| NR_024320.2:n.519G>A |